RGD:28894627 Rat Genome Database

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Variant: RGD:28894627 -  Homo sapiens

RGD ID: 28894627
RS ID: rs8177971
ClinVar ID: CV864994
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PKLR  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 155,265,446
GRCh38 1 155,295,655
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181871.4:c.282+10G>T
NC_000001.11:g.155295655C>A
NC_000001.10:g.155265446C>A
NM_000298.5:c.375+10G>T
More... 		04/27/2017 intron variant benign|likely benign none provided; PK deficiency; Pyruvate kinase deficiency; PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency of erythrocytes; Pyruvate kinase deficiency, Amish type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PKLR
Accession:XM_011509640
Location:INTRON

Gene Symbol:PKLR
Accession:XM_017001493
Location:INTRON

Gene Symbol:PKLR
Accession:NM_181871
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422591
Location:INTRON

Gene Symbol:PKLR
Accession:XM_047422592
Location:INTRON

Gene Symbol:PKLR
Accession:NM_000298
Location:INTRON

Gene Symbol:PKLR
Accession:XM_006711386
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:1670447   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001101482 CLINVAR
  RCV001811655 CLINVAR
dbSNP (RS) rs8177971 CLINVAR
MedGen C0340968 CLINVAR
  C3661900 CLINVAR
NCBI Gene PKLR CLINVAR
OMIM 266200 CLINVAR
  609712 CLINVAR